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基于计数的游离DNA筛查试验未能识别三倍体——一例病例报告。

Counting-based cell-free DNA screening test fails to identify triploidy-A case report.

作者信息

Park Ji E, Park Ji K, Kang Min Y, Cho In A, Baek Jong C

机构信息

Department of Obstetrics and Gynecology College of Medicine Gyeongsang National University Gyeongsang National University Changwon Hospital Changwon Korea.

Department of Obstetrics and Gynecology College of Medicine Gyeongsang National University Hospital Jinju Korea.

出版信息

Clin Case Rep. 2018 Nov 19;7(1):90-93. doi: 10.1002/ccr3.1812. eCollection 2019 Jan.

DOI:10.1002/ccr3.1812
PMID:30656016
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6332828/
Abstract

Although noninvasive prenatal testing (NIPT) is a good test with high sensitivity and specificity for trisomy 21, 18, and 13, it remains a screening test and cannot be used for diagnostic purposes. It is important to consider the outcomes of this test and interpret the results and offer consultation accordingly.

摘要

尽管无创产前检测（NIPT）对于21、18和13三体综合征是一种具有高灵敏度和特异性的良好检测方法，但它仍然只是一种筛查检测，不能用于诊断目的。考虑该检测的结果、解读结果并据此提供咨询非常重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c20/6332828/83f9207d2381/CCR3-7-90-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c20/6332828/25ac056e9921/CCR3-7-90-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c20/6332828/83f9207d2381/CCR3-7-90-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c20/6332828/25ac056e9921/CCR3-7-90-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c20/6332828/83f9207d2381/CCR3-7-90-g002.jpg

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本文引用的文献

1
ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice.国际妇产科超声学会（ISUOG）关于cfDNA非整倍体检测对筛查策略和产前超声实践影响的更新共识声明。
Ultrasound Obstet Gynecol. 2017 Jun;49(6):815-816. doi: 10.1002/uog.17483.
2
The role of ultrasound in women who undergo cell-free DNA screening.超声检查在游离 DNA 筛查女性中的作用。
Am J Obstet Gynecol. 2017 Mar;216(3):B2-B7. doi: 10.1016/j.ajog.2017.01.005. Epub 2017 Jan 17.
3
Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy.
第640号委员会意见：游离DNA筛查胎儿非整倍体。
Obstet Gynecol. 2015 Sep;126(3):e31-e37. doi: 10.1097/AOG.0000000000001051.
4
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort.基于单核苷酸多态性的高危和低危队列的无创产前筛查。
Obstet Gynecol. 2014 Aug;124(2 Pt 1):210-218. doi: 10.1097/AOG.0000000000000363.
5
Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists.无创产前检测在母胎医学专家中的临床应用
Prenat Diagn. 2014 May;34(5):416-23. doi: 10.1002/pd.4301. Epub 2014 Feb 12.
6
Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood.通过孕妇血液中的游离DNA检测进行胎儿三倍体的产前检测。
Fetal Diagn Ther. 2014;35(3):212-7. doi: 10.1159/000355655. Epub 2013 Oct 10.
7
Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples.从母体血浆 DNA 样本进行无创性产前检测胎儿非整倍体的初步临床实验室经验。
Prenat Diagn. 2013 Jun;33(6):569-74. doi: 10.1002/pd.4123.
8
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.在常规筛查的早孕期人群中进行胎儿三体的非侵入性产前检测。
Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6. doi: 10.1016/j.ajog.2012.08.033. Epub 2012 Sep 19.
9
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.母体外周血游离 DNA 测序用于唐氏综合征的检测：一项国际临床验证研究。
Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
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Prenat Diagn. 2008 Dec;28(13):1209-13. doi: 10.1002/pd.2149.